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Download Cystic fibrosis (CF) carrier testing - Nottingham University Hospitals
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What does a carrier test involve? Feedback When you come in for your appointment a small amount of blood will be taken. This will be sent to our laboratory where they will look for any changes (mutations) in the gene that is involved in CF. We appreciate and encourage feedback. If you need advice or are concerned about any aspect of your care or treatment please speak to a member of staff or contact the Patient Advice and Liaison Service (PALS): A carrier test is able to look for 90 per cent of mutations. If you have an unusual mutation in your family the laboratory may not be able to find it. Therefore, if no mutation is found this does not mean you are definitely not a carrier. It will however, greatly reduce your chance of being a carrier. Freephone: 0800 183 0204 From a mobile or abroad: 0115 924 9924 ext. 65412 or 62301 E-mail: [email protected] Letter: NUH NHS Trust, c/o PALS, Freepost NEA 14614, Nottingham NG7 1BR Cystic fibrosis (CF) carrier testing Clinical Genetics www.nuh.nhs.uk Questions to consider What would being a carrier mean to me? Who would I tell if I found out I was a carrier? Would I consider tests in a pregnancy? Are there any other ways to prevent having an affected child? Further information Cystic Fibrosis Trust One Aldgate Second Floor London EC3N 1RE Helpline: 0300 373 1000 General enquiries: 020 37951555 Email: [email protected] www.cysticfibrosis.org.uk If you require a full list of references for this leaflet please email [email protected] or phone 0115 924 9924 ext. 67184. The Trust endeavours to ensure that the information given here is accurate and impartial. Adapted from leaflet by Clinical Genetics at Guy’s and St Thomas’ NHS Foundation Trust. This document can be provided in different languages and formats. For more information please contact: Clinical Genetics Service City Hospital The Gables, Gate 3 Hucknall Road Nottingham NG5 1PB Tel: 0115 962 7728 Emma Douglas, Clinical Genetics © September 2015. All rights reserved. Nottingham University Hospitals NHS Trust. Review September 2017. Ref: 1026/v2/0915/AS. 28 Public information What is cystic fibrosis (CF)? Might I be a carrier? CF is a genetic condition affecting around one in 2,500 people. It affects a number of organs in the body (especially the lungs and pancreas) by clogging them with thick, sticky mucus. The symptoms can include: Repeated chest infections and coughing Digestive problems Diarrhoea and abnormal stools. Carrier testing can be done and will be discussed with you. The table below gives risk figures for various healthy family members. What is a genetic condition? A genetic condition is caused by an alteration in our genes. Genes are the set of instructions inside our bodies which makes each of us an individual. There are thousands of different genes, and each gene has a role in the body. If a gene is altered, it can cause a genetic problem or disease. This type of alteration is known as a mutation. We have two copies of each gene. One copy comes from our mother and the other comes from our father. When we have children, we pass on one copy of each of our genes. CF is a recessive genetic condition. This means that people with CF have a mutation in both copies of their CF gene. Individuals with only one altered copy are healthy. Their unaltered CF gene keeps them healthy and compensates for the altered copy of the gene. Carriers can pass their altered copy of the CF gene to their children. Each child has a 50 per cent (one in two) chance of also being a carrier. Relation to person affected by CF Carrier Risk Parents Brother or sister Aunt or uncle Grandparent First cousin 1 (100%) 2 in 3 1 in 2 1 in 2 1 in 4 If, however, your partner is also a carrier there will be a one in four (25 per cent) chance that you will both pass on your altered copy of the gene and have a child with Cystic Fibrosis. Will my children have CF if I am a carrier? If your partner is not a carrier you will not have a child with CF, but there will be a one in two (50 per cent) chance that your child will be a healthy carrier. There will be a two in four (50 per cent) chance that only one of you will pass on an altered copy of the gene. When this happens the child is a healthy carrier of CF. There will also be a one in four (25 per cent) chance that you both pass on your normal copies and have a child who is not a carrier. These chances will be the same in each pregnancy. Some couples who are both carriers want to know if a baby will be affected by CF. There are two types of test available during pregnancy which can tell whether the baby is affected with CF. These tests can be discussed with you in more detail by a genetic counsellor. There are also leaflets available which tell you more about these tests.